POLE2 - DNA polymerase epsilon 2, accessory subunit Gene

Also Known as DPE2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5427

About POLE2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,643,555-49,688,214 (from NCBI)

This gene has 13 transcripts (splice variants) and 201 orthologues. Broad expression in bone marrow (RPKM 3.7), appendix (RPKM 1.6) and 21 other tissues.

Summary

DNA Polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal Cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]

POLE2 Products (5)

mRNA Protein Name
NM_001197330.2 NP_001184259.1 DNA polymerase epsilon subunit 2 isoform 2
NM_001197331.3 NP_001184260.1 DNA polymerase epsilon subunit 2 isoform 3
NM_001348384.2 NP_001335313.1 DNA polymerase epsilon subunit 2 isoform 4
NM_001348385.2 NP_001335314.1 DNA polymerase epsilon subunit 2 isoform 5
NM_002692.4 NP_002683.2 DNA polymerase epsilon subunit 2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
10801849 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA-templated DNA replication IDA
IDA: Inferred from direct assay
33051204 GOA
Cellular Component GO Annotation Evidence References Source
part of epsilon DNA polymerase complex IDA
IDA: Inferred from direct assay
10801849 GOA
part of epsilon DNA polymerase complex IPI
IPI: Inferred from physical interaction
10801849 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLE2 Protein Structure

Dpoe2NT

Dpoe2NT: DNA polymerases epsilon N terminal (3 - 74)

DNA_pol_E_B

DNA_pol_E_B: DNA polymerase alpha/epsilon subunit B (287 - 489)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 527 a.a.
Protein Preferred Names Protein Names

DNA polymerase epsilon subunit 2

  • DNA polymerase II subunit 2

POLE2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Validated Y2H
32296183
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Array
25416956
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Array
32296183
Intra
POLE2 P56282 TBX15 Homo sapiens Q96SF7
Y2H Array
25416956
Intra
POLE2 P56282 TBX15 Homo sapiens Q96SF7
Y2H Prey Pooling
25416956
Intra
POLE2 P56282 HEL-S-30 Homo sapiens V9HWB8
Y2H Prey Pooling
25416956
Intra
POLE2 P56282 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Y2H Array
32296183
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Anti Tag CoIP
33961781
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Validated Y2H
32296183
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Anti Bait CoIP
10801849
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Validated Y2H
32296183
Intra
POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Y2H Array
32296183
Intra
POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 CYP4F12 Homo sapiens Q9HCS2
Anti Tag CoIP
28514442
Intra
POLE2 P56282 CYP4F12 Homo sapiens Q9HCS2
Anti Tag CoIP
33961781
Intra
POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Validated Y2H
32296183
Intra
POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra
POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Array
31515488
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Validated Y2H
25416956
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra
POLE2 P56282 ZBED1 Homo sapiens O96006
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 ZBED1 Homo sapiens O96006
Y2H Array
32296183
Intra
POLE2 P56282 SORBS3 Homo sapiens O60504
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra
POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Intra
POLE2 P56282 AGFG1 Homo sapiens P52594
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hypothyroidism, Congenital, Nongoitrous, 6

  • CHNG6

  • Congenital Nongoitrous Hypothyroidism 6

  • Hypothyroidism, Congenital, Non-Goitrous, 6

  • Hypothyroidism, Congenital, Nongoitrous, Type 6
Holoprosencephaly 2

  • HPE2

  • Holoprosencephaly-2

  • Holoprosencephaly, Type 2
Combined Immunodeficiency

  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia
Breast Mucinous Carcinoma

  • Mucinous Carcinoma Of Breast

  • Invasive Mucinous Breast Carcinoma
Colorectal Cancer

  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon
Bardet-Biedl Syndrome 1

  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome
Meier-Gorlin Syndrome 1

  • Meier-Gorlin Syndrome

  • Ear, Patella, Short Stature Syndrome

  • Microtia, Absent Patellae, Micrognathia Syndrome

  • MGORS1

  • Eps

  • Ear-Patella-Short Stature Syndrome

  • Ear Patella Short Stature Syndrome

  • Microtia Absent Patellae Micrognathia Syndrome

  • Meier-Gorlin Syndrome, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10826 POLE2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22734 Pole2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29248 Pole2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus POLE2 VGNC VGNC:68939
Bos taurus POLE2 VGNC VGNC:33119
Macaca mulatta POLE2 VGNC VGNC:76204
Mus musculus POLE2 MGD MGI:1197514
Rattus norvegicus POLE2 RGD RGD:1311962
Others POLE2 NCBI